Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.
Handb Exp Pharmacol. 2023;280:3-32. doi: 10.1007/164_2023_658.
There is considerable inter-individual variability in the effectiveness and safety of pharmaceutical interventions. This phenomenon can be attributed to a multitude of factors; however, it is widely acknowledged that common genetic variation affecting drug absorption or metabolism play a substantial contributory role. This is a concept known as pharmacogenetics. Understanding how common genetic variants influence responses to medications, and using this knowledge to inform prescribing practice, could yield significant advantages for both patients and healthcare systems. Some health services around the world have introduced pharmacogenetics into routine practice, whereas others are less advanced along the implementation pathway. This chapter introduces the field of pharmacogenetics, the existing body of evidence, and discusses barriers to implementation. The chapter will specifically focus on efforts to introduce pharmacogenetics in the NHS, highlighting key challenges related to scale, informatics, and education.
药物干预的有效性和安全性在个体间存在相当大的差异。这种现象可以归因于许多因素;然而,人们普遍认为,影响药物吸收或代谢的常见遗传变异起着重要的作用。这就是所谓的药物遗传学。了解常见的遗传变异如何影响对药物的反应,并利用这些知识来指导处方实践,可能会为患者和医疗保健系统带来显著的优势。世界上一些卫生服务机构已经将药物遗传学纳入常规实践,而其他机构在实施途径上则较为落后。本章介绍了药物遗传学领域、现有证据,并讨论了实施的障碍。本章将特别关注在国民保健制度中引入药物遗传学的努力,重点介绍与规模、信息学和教育相关的关键挑战。